Dietary L-proline supplementation ameliorates autism-like behaviors and modulates gut microbiota in the valproic acid-induced mouse model of autism spectrum disorder

The effective intervention strategy for autism spectrum disorder(ASD)are currently limited.Herein,we attempted to evaluate the potential of L-proline(Pro),a multifunctional amino acid,in ameliorating autismlike behaviors and clarify the molecular mechanisms involved by using the typical valproic acid(VPA)-induced mouse model of ASD.Pro significantly attenuates repetitive behaviors and social dysfunction in ASD mice.The correlation analysis revealed that the beneficial effects of Pro on autism-like behaviors are related to the modulation of gut microbiota structure and composition.The histological analysis revealed that Pro could reverse the decrease of Nissl-positive cells in the prefrontal cortex(PFC)induced by VPA exposure.RNA sequencing demonstrated that Pro can also alter the PFC transcriptomic profile distinguished by the regulation of genes involved in Parkinson disease,neuroactive ligand-receptor interaction,oxidative phosphorylation,and mitogen activated protein kinase signaling pathway.Overall,dietary Pro supplementation may be a promising intervention strategy for ASD.

Des-Arg(9)bradykinin as a causal metabolite for autism spectrum disorder

BACKGROUND Early diagnosis and therapeutic interventions can greatly enhance the developmental trajectory of children with autism spectrum disorder(ASD).However,the etiology of ASD is not completely understood.The presence of confounding factors from environment and genetics has increased the difficulty of the identification of diagnostic biomarkers for ASD.AIM To estimate and interpret the causal relationship between ASD and metabolite profile,taking into consideration both genetic and environmental influences.METHODS A two-sample Mendelian randomization(MR)analysis was conducted using summarized data from large-scale genome-wide association studies(GWAS)including a metabolite GWAS dataset covering 453 metabolites from 7824 European and an ASD GWAS dataset comprising 18381 ASD cases and 27969 healthy controls.Metabolites in plasma were set as exposures with ASD as the main outcome.The causal relationships were estimated using the inverse variant weight(IVW)algorithm.We also performed leave-one-out sensitivity tests to validate the robustness of the results.Based on the drafted metabolites,enrichment analysis was conducted to interpret the association via constructing a protein-protein interaction network with multi-scale evidence from databases including Infinome,SwissTargetPrediction,STRING,and Metascape.RESULTS Des-Arg(9)-bradykinin was identified as a causal metabolite that increases the risk of ASD(β=0.262,SE=0.064,P_(IVW)=4.64×10^(-5)).The association was robust,with no significant heterogeneity among instrument variables(P_(MR Egger)=0.663,P_(IVW)=0.906)and no evidence of pleiotropy(P=0.949).Neuroinflammation and the response to stimulus were suggested as potential biological processes mediating the association between Des-Arg(9)bradykinin and ASD.CONCLUSION Through the application of MR,this study provides practical insights into the potential causal association between plasma metabolites and ASD.These findings offer perspectives for the discovery of diagnostic or predictive biomarkers to support clinical practice in treating ASD.

Recent advancements in noninvasive brain modulation for individuals with autism spectrum disorder

Autism spectrum disorder is classified as a spectrum of neurodevelopmental disorders with an unknown definitive etiology.Individuals with autism spectrum disorder show deficits in a variety of areas including cognition,memory,attention,emotion recognition,and social skills.With no definitive treatment or cure,the main interventions for individuals with autism spectrum disorder are based on behavioral modulations.Recently,noninvasive brain modulation techniques including repetitive transcranial magnetic stimulation,intermittent theta burst stimulation,continuous theta burst stimulation,and transcranial direct current stimulation have been studied for their therapeutic properties of modifying neuroplasticity,particularly in individuals with autism spectrum disorder.Preliminary evidence from small cohort studies,pilot studies,and clinical trials suggests that the various noninvasive brain stimulation techniques have therapeutic benefits for treating both behavioral and cognitive manifestations of autism spectrum disorder.However,little data is available for quantifying the clinical significance of these findings as well as the long-term outcomes of individuals with autism spectrum disorder who underwent transcranial stimulation.The objective of this review is to highlight the most recent advancements in the application of noninvasive brain modulation technology in individuals with autism spectrum disorder.

Associations between meeting 24-hour movement guidelines and quality of life among children and adolescents with autism spectrum disorder

Background:The Canadian 24-hour movement behavior(24-HMB)guidelines suggest that a limited amount of screen time use,an adequate level of physical activity(PA),and sufficient sleep duration are beneficial for ensuring and optimizing the health and quality of life(QoL)of children and adolescents.However,this topic has yet to be examined for children and adolescents with autism spectrum disorder(ASD)specifically.The aim of this cross-sectional observational study was to examine the associations between meeting 24-HMB guidelines and several QoLrelated indicators among a national sample of American children and adolescents with ASD.Methods:Data were taken from the 2020 U.S.National Survey of Children’s Health dataset.Participants(n=956)aged 617 years and currently diagnosed with ASD were included.The exposure of interest was adherence to the 24-HMB guidelines.Outcomes were QoL indicators,including learning interest/curiosity,repeating grades,adaptive ability,victimization by bullying,and behavioral problems.Categorical variables were described with unweighted sample counts and weighted percentages.Age,sex,race,preterm birth status,medication,behavioral treatment,household poverty level,and the educational level of the primary caregivers were included as covariates.Odds ratio(OR)and 95%confidence interval(95%CI)were used to present the strength of association between adherence to 24-HMB guidelines and QoL-related indicators.Results:Overall,452 participants(45.34%)met 1 of the 3 recommendations,216(22.65%)met 2 recommendations,whereas only 39 participants(5.04%)met all 3 recommendations.Compared with meeting none of the recommendations,meeting both sleep duration and PA recommendations(OR=3.92,95%CI:1.639.48,p<0.001)or all 3 recommendations(OR=2.11,95%CI:1.034.35,p=0.04)was associated with higher odds of showing learning interest/curiosity.Meeting both screen time and PA recommendations(OR=0.15,95%CI:0.040.61,p<0.05)or both sleep duration and PA recommendations(OR=0.24,95%CI:0.070.87,p<0.05)was associated with lower odds of repeating any grades.With respect to adaptive ability,participants who met only the PA recommendation of the 24-HMB were less likely to have difficulties dressing or bathing(OR=0.11,95%CI:0.020.66,p<0.05)than those who did not.For participants who met all 3 recommendations(OR=0.38,95%CI:0.150.99,p=0.05),the odds of being victimized by bullying was lower.Participants who adhered to both sleep duration and PA recommendations were less likely to present with severe behavioral problems(OR=0.17,95%CI:0.040.71,p<0.05)than those who did not meet those guidelines.Conclusion:Significant associations were found between adhering to 24-HMB guidelines and selected QoL indicators.These findings highlight the importance of maintaining a healthy lifestyle as a key factor in promoting and preserving the QoL of children with ASD.

Modernising autism spectrum disorder model engineering and treatment via CRISPR-Cas9:A gene reprogramming approach

A neurological abnormality called autism spectrum disorder(ASD)affects how a person perceives and interacts with others,leading to social interaction and communication issues.Limited and recurring behavioural patterns are another feature of the illness.Multiple mutations throughout development are the source of the neurodevelopmental disorder autism.However,a well-established model and perfect treatment for this spectrum disease has not been discovered.The rising era of the clustered regularly interspaced palindromic repeats(CRISPR)-associated protein 9(Cas9)system can streamline the complexity underlying the pathogenesis of ASD.The CRISPR-Cas9 system is a powerful genetic engineering tool used to edit the genome at the targeted site in a precise manner.The major hurdle in studying ASD is the lack of appropriate animal models presenting the complex symptoms of ASD.Therefore,CRISPR-Cas9 is being used worldwide to mimic the ASD-like pathology in various systems like in vitro cell lines,in vitro 3D organoid models and in vivo animal models.Apart from being used in establishing ASD models,CRISPR-Cas9 can also be used to treat the complexities of ASD.The aim of this review was to summarize and critically analyse the CRISPRCas9-mediated discoveries in the field of ASD.

Role of gastrointestinal health in managing children with autism spectrum disorder

Children with autism spectrum disorders(ASD)or autism are more prone to gastrointestinal(GI)disorders than the general population.These disorders can significantly affect their health,learning,and development due to various factors such as genetics,environment,and behavior.The causes of GI disorders in children with ASD can include gut dysbiosis,immune dysfunction,food sensitivities,digestive enzyme deficiencies,and sensory processing differences.Many studies suggest that numerous children with ASD experience GI problems,and effective management is crucial.Diagnosing autism is typically done through genetic,neurological,functional,and behavioral assessments and observations,while GI tests are not consistently reliable.Some GI tests may increase the risk of developing ASD or exacerbating symptoms.Addressing GI issues in individuals with ASD can improve their overall well-being,leading to better behavior,cognitive function,and educational abilities.Proper management can improve digestion,nutrient absorption,and appetite by relieving physical discomfort and pain.Alleviating GI symptoms can improve sleep patterns,increase energy levels,and contribute to a general sense of well-being,ultimately leading to a better quality of life for the individual and improved family dynamics.The primary goal of GI interventions is to improve nutritional status,reduce symptom severity,promote a balanced mood,and increase patient independence.

Diagnosis of Autism Spectrum Disorder by Imperialistic Competitive Algorithm and Logistic Regression Classifier

Autism spectrum disorder(ASD),classified as a developmental disability,is now more common in children than ever.A drastic increase in the rate of autism spectrum disorder in children worldwide demands early detection of autism in children.Parents can seek professional help for a better prognosis of the child’s therapy when ASD is diagnosed under five years.This research study aims to develop an automated tool for diagnosing autism in children.The computer-aided diagnosis tool for ASD detection is designed and developed by a novel methodology that includes data acquisition,feature selection,and classification phases.The most deterministic features are selected from the self-acquired dataset by novel feature selection methods before classification.The Imperialistic competitive algorithm(ICA)based on empires conquering colonies performs feature selection in this study.The performance of Logistic Regression(LR),Decision tree,K-Nearest Neighbor(KNN),and Random Forest(RF)classifiers are experimentally studied in this research work.The experimental results prove that the Logistic regression classifier exhibits the highest accuracy for the self-acquired dataset.The ASD detection is evaluated experimentally with the Least Absolute Shrinkage and Selection Operator(LASSO)feature selection method and different classifiers.The Exploratory Data Analysis(EDA)phase has uncovered crucial facts about the data,like the correlation of the features in the dataset with the class variable.

The Electrophysiology of Semantic Processing in Individuals with Autism Spectrum Disorder:A Meta-Analysis

Language difficulties vary widely among people with autism spectrum disorder(ASD).However,the semantic processing of autistic person and its underlying electrophysiological mechanism are still unclear.This meta-analysis aimed to explore the disturbance of semantic processing in patients with ASD.PubMed,Web of Science,and Embase were searched for eventrelated potential(ERP)studies on semantic processing in autistic people published in English before September 01,2022.Pooled estimates were calculated by fixed-effects or random-effects models according to the heterogeneity using Comprehensive Meta-Analysis 2.0.The potential moderators were explored by meta-regression and subgroup analysis.This meta-analysis has been registered at the Prospero International Prospective Register of Systematic Reviews(no.CRD 42021265852).A total of 14 articles and 18 studies,including 254 autistic people and 262 neurodevelopmental people were included in this meta-analysis.Compared to the comparison group,autistic people showed an overall reduced N400 amplitude(Hedges’g=0.350,p<0.001)in response to linguistic stimuli instead of non-linguistic stimuli.The N400 amplitude was affected by verbal intelligence and gender.The reduced overall N400 amplitude in autistic people under linguistic stimuli suggests a linguistic-specific deficit in semantic processing in individuals of autism.The decrease of N400 amplitude might be a promising indication of the pool language capacity of autism.

Video-Based Interventions for Adolescents and Young Adults with Autism Spectrum Disorder:A Systematic

Many individuals with autism spectrum disorder(ASD)experience delays in the development of social and communications skills,which can limit their opportunities in higher education and employment resulting in an overall negative impact to their quality of life.This systematic review identifies 15 studies that explored the effectiveness of Video-Based Interventions(VBIs)for those with ASD during the critical years of adolescence and young adulthood.The 15 studies described herein found this to be an effective intervention for this population for the improvement of their vocational,daily living,and academic skills.In addition,VBIs allow for the maintenance and generalization of the different target behaviors that were examined.The majority of the studies located by this review also investigated the social validity of the intervention method with participants and caregivers and found these VBIs to have high social validity.Although a few studies that implemented VBIs to improve academic skills were located,the research on their use in this area was found to be lacking,indicating a gap in the research on VBIs.Increased usage of VBIs—including video modeling and video prompting—with the target population of those aged 15–28 with ASD is recommended with specific attention given to the use of VBIs to improve the academic and social skills of adolescents and young adults with ASD.

Efficacy of Children Neuropsychological and Behavioral Scale in Screening for Autism Spectrum Disorders through a Combination of Developmental Surveillance

Objective This study aimed to explore the clinical value of Children Neuropsychological and Behavioral Scale-Revision 2016(CNBS-R2016)for Autism Spectrum Disorder(ASD)screening in the presence of developmental surveillance.Methods All participants were evaluated by the CNBS-R2016 and Gesell Developmental Schedules(GDS).Spearman’s correlation coefficients and Kappa values were obtained.Taking GDS as a reference assessment,the performance of the CNBS-R2016 for detecting the developmental delays of children with ASD was analyzed with receiver operating characteristic(ROC)curves.The efficacy of the CNBS-R2016 to screen for ASD was explored by comparing Communication Warning Behavior with Autism Diagnostic Observation Schedule,Second Edition(ADOS-2).Results In total,150 children aged 12–42 months with ASD were enrolled.The developmental quotients of the CNBS-R2016 were correlated with those of the GDS(r=0.62–0.94).The CNBS-R2016 and GDS had good diagnostic agreement for developmental delays(Kappa=0.73–0.89),except for Fine Motor.There was a significant difference between the proportions of Fine Motor,delays detected by the CNBS-R2016 and GDS(86.0%vs.77.3%).With GDS as a standard,the areas under the ROC curves of the CNBS-R2016 were above 0.95 for all the domains except Fine Motor,which was 0.70.In addition,the positive rate of ASD was 100.0%and 93.5%when the cut-off points of 7 and 12 in the Communication Warning Behavior subscale were used,respectively.Conclusion The CNBS-R2016 performed well in developmental assessment and screening for children with ASD,especially by Communication Warning Behaviors subscale.Therefore,the CNBS-R2016 is worthy of clinical application in children with ASD in China.

Understanding Autism Spectrum Disorder(ASD)Unraveling the Mysteries(A Short Review)

Autism Spectrum Disorder(ASD)is a multifaceted neurodevelopmental condition characterized by a spectrum of symptoms and behaviors,challenging to fully comprehend due to its variability.This article provides an overview of ASD,including its characteristics,prevalence,diagnosis,and causes.The prevalence of ASD has been on the rise,with improved awareness and diagnostic tools.While genetics and environmental factors play a role,the exact causes remain elusive.Early intervention and various therapies are crucial for improving outcomes,although there is no cure.Ongoing research aims to uncover the complexities of ASD and develop effective treatments.Embracing diversity and fostering inclusion is essential for supporting individuals with ASD.As we continue to unravel the mysteries of ASD,we move closer to a more understanding and inclusive society.This article explores the role of Transcranial Magnetic Stimulation(TMS)in the treatment of Autism Spectrum Disorder(ASD).TMS,a non-invasive neurostimulation technique,is gaining attention as a potential therapy to address specific aspects of ASD.

Consistent and Specific Multi-View Functional Brain Networks Fusion for Autism Spectrum Disorder Diagnosis

Functional brain networks (FBN) based on resting-state functional magnetic resonance imaging (rs-fMRI) have become an important tool for exploring underlying organization patterns in the brain, which can provide an objective basis for brain disorders such as autistic spectrum disorder (ASD). Due to its importance, researchers have proposed a number of FBN estimation methods. However, most existing methods only model a type of functional connection relationship between brain regions-of-interest (ROIs), such as partial correlation or full correlation, which is difficult to fully capture the subtle connections among ROIs since these connections are extremely complex. Motivated by the multi-view learning, in this study we propose a novel Consistent and Specific Multi-view FBNs Fusion (CSMF) approach. Concretely, we first construct multi-view FBNs (i.e., multiple types of FBNs modelling various relationships among ROIs), and then these FBNs are decomposed into a consistent representation matrix and their own specific matrices which capture their common and unique information, respectively. Lastly, to obtain a better brain representation, it is fusing the consistent and specific representation matrices in the latent representation spaces of FBNs, but not directly fusing the original FBNs. This potentially makes it more easily to find the comprehensively brain connections. The experimental results of ASD identification on the ABIDE datasets validate the effectiveness of our proposed method compared to several state-of-the-art methods. Our proposed CSMF method achieved 72.8% and 76.67% classification performance on the ABIDE dataset.

Exploring the Lives of Mothers Raising Children with Autism Spectrum Disorder in Japan

Background: Examining the lives that mothers experience and build will allow us to deepen our understanding of children with ASD and their mothers and facilitate developing support methods. The study aimed to examine the lives of mothers raising children with autism spectrum disorder (ASD) and investigate their sources of support. Method: We conducted a qualitative inductive study using semi-structured interviews to identify characteristics of the lives that mothers have created. Results: Semi-structured interviews were conducted with 11 mothers having children with ASD. The analysis comprised three stages of coding and yielded eight categories. The lives of these mothers contained three themes: preoccupation with parenting children with ASD and their siblings;evolving mother;and using social resources. Mothers engaged in “assessing the characteristics, growth, and changes in the child with ASD”, had a “preoccupation with parenting children with ASD”, and were “thinking about the future of the child with ASD”, and “having goals and plans for parenting” while having “consideration toward the child’s siblings”. During this process, mothers experienced “changes in perspective or approach” and created lifestyles while “receiving help from people around them” and engaged in the “use of social resources”. Conclusions: To avoid becoming preoccupied with parenting and being burdened by their lifestyle, mothers require social support to monitor their perceptions. Furthermore, the utilization of social resources requires the supporting individuals to understand the characteristics of children with ASD, provide appropriate information, and assist in decision-making.

Facial Image-Based Autism Detection:A Comparative Study of Deep Neural Network Classifiers

Autism Spectrum Disorder(ASD)is a neurodevelopmental condition characterized by significant challenges in social interaction,communication,and repetitive behaviors.Timely and precise ASD detection is crucial,particularly in regions with limited diagnostic resources like Pakistan.This study aims to conduct an extensive comparative analysis of various machine learning classifiers for ASD detection using facial images to identify an accurate and cost-effective solution tailored to the local context.The research involves experimentation with VGG16 and MobileNet models,exploring different batch sizes,optimizers,and learning rate schedulers.In addition,the“Orange”machine learning tool is employed to evaluate classifier performance and automated image processing capabilities are utilized within the tool.The findings unequivocally establish VGG16 as the most effective classifier with a 5-fold cross-validation approach.Specifically,VGG16,with a batch size of 2 and the Adam optimizer,trained for 100 epochs,achieves a remarkable validation accuracy of 99% and a testing accuracy of 87%.Furthermore,the model achieves an F1 score of 88%,precision of 85%,and recall of 90% on test images.To validate the practical applicability of the VGG16 model with 5-fold cross-validation,the study conducts further testing on a dataset sourced fromautism centers in Pakistan,resulting in an accuracy rate of 85%.This reaffirms the model’s suitability for real-world ASD detection.This research offers valuable insights into classifier performance,emphasizing the potential of machine learning to deliver precise and accessible ASD diagnoses via facial image analysis.

Pre-autism:Advancing early identification and intervention in autism

Autism spectrum disorder(ASD)is often diagnosed long after symptoms have become noticeable.This delay can make it difficult to provide early intervention,which can impact long-term outcomes.The concept of"pre-autism"highlights the phase before a formal diagnosis of ASD,providing an opportunity for earlier identification and intervention,which could be a turning point in ASD management.In a previous article,we explored different ways of diagnosing pre-autism,including historical records,physical markers,laboratory tests,and radiological evidence.This manuscript builds on that foundation by emphasizing the importance of early diagnosis and intervention in ASD.Recent research advancements have clarified that ASD presentations can be complex,and individualized support strategies are necessary.The significance of pre-autism lies in its potential to alter the trajectory of ASD through early detection and intervention despite challenges such as limited awareness and variability in symptom presentation.Biomarkers and diagnostic tools have shown promise as avenues for early detection,but it is essential to exercise caution and not rely too heavily on yet-tobe-established markers.Addressing these challenges requires a collaborative effort to increase awareness,improve access to diagnostic tools,and foster inclusive environments.Ultimately,this manuscript calls for ongoing research,advocacy,and resource allocation to enhance early detection and intervention efforts,ensuring optimal outcomes for individuals on the autism spectrum.

Gastrointestinal problems in a valproic acid-induced rat model of autism: From maternal intestinal health to offspring intestinal function

BACKGROUND Autism spectrum disorder(ASD)is a developmental disorder characterized by social deficits and repetitive behavior.Gastrointestinal(GI)problems,such as constipation,diarrhea,and inflammatory bowel disease,commonly occur in patients with ASD.Previously,GI problems of ASD patients were attributed to intestinal inflammation and vertical mother-to-infant microbiome transmission.AIM To explore whether GI problems in ASD are related to maternal intestinal inflam-mation and gut microbiota abnormalities.METHODS An ASD rat model was developed using valproic acid(VPA).Enzyme-linked immunosorbent assay and fecal 16S rRNA sequencing were used to test GI changes.RESULTS VPA exposure during pregnancy led to pathological maternal intestinal changes,resulting in alterations in maternal gut microbiota.Additionally,the levels of inflammatory factors also increased.Moreover,prenatal exposure to VPA resulted in impaired duodenal motility in the offspring as well as increased levels of infla-mmatory factors.CONCLUSION GI problems in ASD may be associated with maternal intestinal inflammation and microbiota abnormality.Future research is required to find more evidence on the etiology and treatment of GI problems in ASD.

Metabolomic changes in children with autism

BACKGROUND Autism spectrum disorder(ASD)is a neurodevelopmental condition characterized by deficits in social communication and repetitive behaviors.Metabolomic profiling has emerged as a valuable tool for understanding the underlying metabolic dysregulations associated with ASD.AIM To comprehensively explore metabolomic changes in children with ASD,integrating findings from various research articles,reviews,systematic reviews,meta-analyses,case reports,editorials,and a book chapter.METHODS A systematic search was conducted in electronic databases,including PubMed,PubMed Central,Cochrane Library,Embase,Web of Science,CINAHL,Scopus,LISA,and NLM catalog up until January 2024.Inclusion criteria encompassed research articles(83),review articles(145),meta-analyses(6),systematic reviews(6),case reports(2),editorials(2),and a book chapter(1)related to metabolomic changes in children with ASD.Exclusion criteria were applied to ensure the relevance and quality of included studies.RESULTS The systematic review identified specific metabolites and metabolic pathways showing consistent differences in children with ASD compared to typically developing individuals.These metabolic biomarkers may serve as objective measures to support clinical assessments,improve diagnostic accuracy,and inform personalized treatment approaches.Metabolomic profiling also offers insights into the metabolic alterations associated with comorbid conditions commonly observed in individuals with ASD.CONCLUSION Integration of metabolomic changes in children with ASD holds promise for enhancing diagnostic accuracy,guiding personalized treatment approaches,monitoring treatment response,and improving outcomes.Further research is needed to validate findings,establish standardized protocols,and overcome technical challenges in metabolomic analysis.By advancing our understanding of metabolic dysregulations in ASD,clinicians can improve the lives of affected individuals and their families.

Decoding the genetic landscape of autism:A comprehensive review

BACKGROUND Autism spectrum disorder(ASD)is a complex neurodevelopmental condition characterized by heterogeneous symptoms and genetic underpinnings.Recent advancements in genetic and epigenetic research have provided insights into the intricate mechanisms contributing to ASD,influencing both diagnosis and therapeutic strategies.AIM To explore the genetic architecture of ASD,elucidate mechanistic insights into genetic mutations,and examine gene-environment interactions.METHODS A comprehensive systematic review was conducted,integrating findings from studies on genetic variations,epigenetic mechanisms(such as DNA methylation and histone modifications),and emerging technologies[including Clustered Regularly Interspaced Short Palindromic Repeats(CRISPR)-Cas9 and single-cell RNA sequencing].Relevant articles were identified through systematic searches of databases such as PubMed and Google Scholar.RESULTS Genetic studies have identified numerous risk genes and mutations associated with ASD,yet many cases remain unexplained by known factors,suggesting undiscovered genetic components.Mechanistic insights into how these genetic mutations impact neural development and brain connectivity are still evolving.Epigenetic modifications,particularly DNA methylation and non-coding RNAs,also play significant roles in ASD pathogenesis.Emerging technologies like CRISPR-Cas9 and advanced bioinformatics are advancing our understanding by enabling precise genetic editing and analysis of complex genomic data.CONCLUSION Continued research into the genetic and epigenetic underpinnings of ASD is crucial for developing personalized and effective treatments.Collaborative efforts integrating multidisciplinary expertise and international collaborations are essential to address the complexity of ASD and translate genetic discoveries into clinical practice.Addressing unresolved questions and ethical considerations surrounding genetic research will pave the way for improved diagnostic tools and targeted therapies,ultimately enhancing outcomes for individuals affected by ASD.

Evaluation of Clinician Training in Autism Screening, Care Management, and Patient Education

Objective: The demand for pediatric developmental evaluations has far exceeded the workforce available to perform them, which creates long significant wait times for services. A year-long clinician training using the Extension for Community Healthcare Outcomes (ECHO®) model with monthly meetings was conducted and evaluated for its impact on primary care clinicians’ self-reported self-efficacy, ability to administer autism screening and counsel families, professional fulfillment, and burnout. Methods: Participants represented six community health centers and a hospital-based practice. Data collection was informed by participant feedback and the Normalization Process Theory via online surveys and focus groups/interviews. Twelve virtual monthly trainings were delivered between November 2020 and October 2021. Results: 30 clinicians participated in data collection. Matched analyses (n = 9) indicated statistically significant increase in self-rated ability to counsel families about autism (Pre-test Mean = 3.00, Post-test Mean = 3.89, p = 0.0313), manage autistic patients’ care (Pre-test Mean = 2.56, Post-test Mean = 4.11, p = 0.0078), empathy toward patients (Pre-test Mean = 2.11, Post-test Mean = 1.22, p = 0.0156) and colleagues (Pre-test Mean = 2.33, Post-test Mean = 1.22, respectively, p = 0.0391). Unmatched analysis revealed increases in participants confident about educating patients about autism (70.59%, post-test n = 12 vs. 3.33%, pre-test n = 1, p = 0.0019). Focus groups found increased confidence in using the term “autism”. Conclusion: Participants reported increases in ability and confidence to care for autistic patients, as well as empathy toward patients and colleagues. Future research should explore long-term outcomes in participants’ knowledge retention, confidence in practice, and improvements to autism evaluations and care.

Does playing a sports active video game improve object control skills of children with autism spectrum disorder?

Background: Active video games(AVGs) encourage whole body movements to interact or control the gaming system, allowing the opportunity for skill development. Children with autism spectrum disorder(ASD) show decreased fundamental movement skills in comparison with their typically developing(TD) peers and might benefit from this approach. This pilot study investigates whether playing sports AVGs can increase the actual and perceived object control(OC) skills of 11 children with ASD aged 6–10 years in comparison to 19 TD children of a similar age.Feasibility was a secondary aim.Methods: Actual(Test of Gross Motor Development) and perceived OC skills(Pictorial Scale of Perceived Movement Skill Competence for Young Children) were assessed before and after the intervention(6 × 45 min).Results: Actual skill scores were not improved in either group. The ASD group improved in perceived skill. All children completed the required dose and parents reported the intervention was feasible.Conclusion: The use of AVGs as a play-based intervention may not provide enough opportunity for children to perform the correct movement patterns to influence skill. However, play of such games may influence perceptions of skill ability in children with ASD, which could improve motivation to participate in physical activities.